ClinVar Miner

List of variants in gene TMEM43 reported as uncertain significance for Cardiomyopathy

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Total variants: 24
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HGVS dbSNP
NM_024334.2(TMEM43):c.-3A>T rs763829810
NM_024334.2(TMEM43):c.1019T>C (p.Phe340Ser) rs1559363663
NM_024334.2(TMEM43):c.1026C>A (p.Asp342Glu) rs376514478
NM_024334.2(TMEM43):c.1059C>G (p.Phe353Leu) rs730880227
NM_024334.2(TMEM43):c.1159A>G (p.Ile387Val) rs541565919
NM_024334.2(TMEM43):c.121A>G (p.Met41Val) rs144334386
NM_024334.2(TMEM43):c.214G>A (p.Val72Met) rs368603914
NM_024334.2(TMEM43):c.271A>G (p.Ile91Val) rs144811578
NM_024334.2(TMEM43):c.31C>T (p.Arg11Trp) rs201085402
NM_024334.2(TMEM43):c.32G>A (p.Arg11Gln) rs568179990
NM_024334.2(TMEM43):c.392+1G>T rs1559360791
NM_024334.2(TMEM43):c.418_420AAG[1] (p.Lys141del) rs746639451
NM_024334.2(TMEM43):c.47A>T (p.Lys16Ile) rs770619613
NM_024334.2(TMEM43):c.548C>T (p.Pro183Leu) rs746116143
NM_024334.2(TMEM43):c.601G>A (p.Asp201Asn) rs138182276
NM_024334.2(TMEM43):c.682A>T (p.Ser228Cys) rs776147178
NM_024334.2(TMEM43):c.718C>T (p.Arg240Cys) rs367910936
NM_024334.2(TMEM43):c.778G>A (p.Val260Met) rs758872772
NM_024334.2(TMEM43):c.796C>T (p.Arg266Trp) rs139842014
NM_024334.2(TMEM43):c.839G>A (p.Gly280Glu) rs1559362201
NM_024334.2(TMEM43):c.865G>A (p.Gly289Arg) rs730880226
NM_024334.2(TMEM43):c.892C>G (p.His298Asp) rs1559363073
NM_024334.2(TMEM43):c.947G>C (p.Trp316Ser) rs199526104
NM_024334.2(TMEM43):c.964G>A (p.Gly322Ser) rs1231932407

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